Ri_| of 042022. out ce. PRINCLPLES OF TNUERIANGE AMO VARIATION grrenttoni2 & charackey ov gomethiing that: is | passed on _grom one qaneration to other generotion « + r much obsewed and noticable un _seauicthie yeproduuing organiem . 1 + Leads oO vasfatton tn progensy : * Rosulks un evolution ¥|| Teume y- # || Cavomogome | numbar t+ a 22 paris (Antosomnes ) — WC conrrots 2omatic craw” 23 paras | 4b eraomoomes | 4 para LAUDZomel ( ax _Luaomosome ) contwols sexo charac” # || Genes I eonctional unit _o inhaattani - Ls wiven by Tehannsens L coazen catled garkor ley eendiol. L eaist as pour + || Actes |S"Gne orm oj qane- |» can be dominant or vecessive | - atlete Gone Se atteHomologous! chromosom: b> A pur oy one matetnat ancl pakexnal Umomosomes - having same shape, si22 , position of bait (versien ean be dujperent > Hekvologous Unromosoms 1+ A pair py one maternal and ene poteanal Caomogomes - having dejyesont shape Bi 22 , position oY trot + Homo 249 ous Uhromosomes 1. Lo Both Hee alleles will ke dem only be dominant ot onty be vorssive - eq: TT, te. Herorygous cleromosomes- One op He altele wil be clominant and will be vecessive. Q eq: Tt et. Pure breading [Truc Unes t+ [When conKnously Soty Hovocs e@ahibit similar ie reer J hosackere 40% seuckal apnorations . Dominant 3- 12 Ges Cahivived - b> wien in capitat ltters- Recessive 1 Le temains hidden - sa RPL lab Ui L, written un srmatt Ukters ballPhenoky pe 3: [2 _morphologtcal . or external physical appearence 9) Ga! Tau, Doomy » Ss — st_|| Gonohypes- genetic tu te see vues ey tat __ | ba: TT- homezygous dominant. aul Et ~ Homozygous recessive - BAG Fe Hetrozygous clomtnant - % || Handetgeun Genetics + ee uff Ea-ties Oy trenotice 1 Gregor T+ Manotel - 2), Boyny 22 Tuoly 1e22_ 1 72) Peony 16884 (His shicdy wos nok retogniseol ). || Ay | Agter loys oy Wis death tn 1400, 3 sdentists %. Hugo oe yrces ovreng Tschtmoak rediscovercal Mondelts work and came into reeognitton- Mendel was a mothematican who appitedh “ |Lmethematical logic to sdence - b)|| Hencdel cticl ypeSeaath on pea plant (Pisum sativum) |- ai Yeas JAOM 1856-1863 and gave the : caste Laws oy Iniwrtbann. t x || Reasong 401 Mordelfan siccees : : Lite nok a orge samping size whith gave t prod credibiuthy to his data a bo We provedl nis exportmonts with He hetp oF a mathemokival analysis: oS = He _usect eevecal contrasting chayacterg . a uzChima, fe Be Why wag Mandletrg wove _unvetagnizedl yov wa SE Co & long time 7 Ly Wig was nok publishodt properly bs Ag Wo was a matrornaictan Wis Laws uae not _accptad by biologist: Pp Doaoun's hoor wag parmovs at Hak cume: > Wicvoscope wear not watt developed - PDNA was nt yee distoverscl 30 no Proop 4 explaug Hat someting ix irhealtad- select pons plart gor we 1? Soby potleraking and. easy 10 otoss pollinoke- P Severo. Lontrasting Urrackars: So. | Characters Dominant | Recessive- 1 Wetgnt - [tau | Desoay 2 Plower position. | Axial Teaminad, 3 Flower ctouneal Viole, white, “a goack Shape Round wor iniuted 5. geod colour Yelpow Gxean b Pod. shape elated | constricted a Pod._colour - Groen Yobiow. L. Ge) x || twnerttenee oy one Gene |Monokybridl cross i TARE Pure _breedin a x Pure bracduing homozygous tall homozygous chauery. TA £4 + CPaacnt) 1s 1 T 4 &+ Unamete?Foz TT Te Te aa. i Tout Tall Tall Puorg. Prenety pie vyatto 2 3:1 fu ose 125% Genotype vorro = 1:2'1 4%. 2 as % 1 S0%:25%. s\| Based en Horokybred crosg Mondial gave rmw0 Low 4 ODoruranee . Lowe ey) Sea veganon Lows ey Dominance © | > Ino “hehe 2ygous organigm ovt ey hwO gilsia enc j aller ts deminant and & expreaed ond Hue oer yecagsive whith remains hidden Cgct a Fo Generation) « a |} Lows Segregation: petro zyqovs OvQamism though 4 jermains tgethea +hey do not bunck worth anc vphorn Herr identiny= 2 ||Punnat Sqnraser Given by Reginatd -¢ Punnett: (D4 |] Test Croee , + tyose blu an orghnigm with dlonunant pheno. Land whose gancrype is to re determined) with a Yeewssive ovganige (FQ_« || treomplete Dominance [semi donacna.nes)" Ex+ Dog plows [snap dragon power fantivhinum sraces, Red ptowere X _Wulke Clowerk aR x ve «Parents ) w/e ue CU brometes) Fiz Ry Ry RyRy LAU pink ploweas) - | Y 80th breading « Ry * Ry (Fa parents) I dy ely. Fas RR Ry Ry vy tad Fine white - Pronotypic vation © 1: 21) /I 6 2: 507.4250. Gunetypic reno 112 tW | asa asoys oe Lo- dominance 1 Ta P Also Known as tubriple AUetion pp Also tron a on- Hendalion iwheAlbanw paltouh Gx: Blood qiovp da Human beings. conrrolied by a gene I.Chima 4 Page: f b T® be ude on the Plasma mémborane of RBC pee Ge I+ coos not voKex ce g over gach other Fount 7 | Carent © Cronotype | Pheno bype ze rf raga A 1? a reT® AB 1? Te TAT! a ae x*. zeun* ne yest qncup 0 _marays a womecn with Pind out the pheroty pe end ce A man wttn blood Lioval_g%avp AB = oy tho _progenty » i (Je | gemoty pe a Fathec Mother t 7 p2. Ae ay Jest a= 5- re Te [rer fart Fee LATS [*r' T8ré yey te Sze peye Pheno 24/8 rene PLettropy 2 2A sin controling more Maan ene phonohy 2” kvoui £3: Seed shape and gaol size. Cquanhi Skeet wn a plant. synthesized) fis Bob Bb. Bb- webotygous vound- ie, Bis dominant b & recessive (size) Bex b Horne Homowqous bey ead s soca . Lmere etarth) (4s stare), Fs Bb. Bb -Bb eb —————————— OA Te| ne. Tocasionalty, A Sungle gent produit move Hun one ~le Chima. mo Ae to Lorrplrte dominant daphed as expressivn o muthpls P wien ~/gits Uy & Bingle gene - the tui conholuag oy ux, é eaene A tc bvouts . = nee for example, Starch syntherls > eq eoools [conpolivel by one geno. Tk hes, hwo abletes CB andl b)- 5 Skaath 4 aynthesise d eppectivaty by BB ho rrozgotes ty Husagwore , lasge starch qrabis are produrceat. Atbes mahuiotiom 4 tha seccls | BB Seachs are |wounal « bb sects arr orthisled » > Heb eso zyeotes product youn sads, and $0 2 Seem to Va dlenarin _attele Tnhorteante oF Agence | Dihybred vwss BAR KARR RR ARRR A LHOAQLELAL I Cork shape and Seeal colour i} Rounol Yellow, rrean. 2 wvinttedt 1 } fi “ ome: os, jor 0 2t4gow’s : p42! i ota 4 uo. Wrenkted , qagen - 4 C Paronts) ag uY ay cy Unamate)- Rr Be RRA vg “YY vy. Round Yellow: | eaty ‘evel 4Ry INN Ru Ryvyy Ry R RRYY RRYY any aay | Rv | Oe4y | as yy Puenorypic robo 4. Bt 31) —¥ wrintled y Wwrinkiid gh ple (Beond y PEP i varie» (A Bet 12 2 Ry44= 2 Rr4y = 4 RR ws Ry zL xy On the basis alikybyel cross, Uendel law endlent _A8S0vimenL when feo patar baits combineR in jon cof Ako) ‘oni 2 Han, oy) In _a dihybvid rose egy, ation br olen Beqve mation ablotes chazarters_9 Chonacters-was given buy Theratove Bovenc anal Wattor gutter c OMe theo vebicat eaplanakion) . Tes Hrtory Gitso lenown as Boveri Bay Sotion (Lewes [Le stateg at chromosome ane wo Paseeee v | comme ay tha qenttte material - lo Tre belhontour 0, Uromovome parallel to y | ene behoview. oy te genetic motmatol YG Eapertmantoct veriiiatien oo, Lmemosomal twory, SS I |b was “done by Thomaa Yunt Morgan. [> He oli tre erperiment with o eruiteup olio [usw 0s Dovsoplita melanogaster I. Thomes unt Morgan us algo known boy (| experimental mon oy genohice || - Fly man oj _genstice - [lb we gone te _ummepl miss rose Theaters T |eca Unvedt Inheaitante, tiene map , Unvage . i ! 1 why lid Hovgan select erik ely 40 hus hi i 2Apoatment ? = e > Fruit euycan be omen tn a simple synthetic | -— médsiim 0 sugar in (ob- > Shovt Ue span about 2 wens: I~ Simple. noking produce? lascpe number oy Progeny - 4 > Howe only 4 par a) drromogeme praia: Bniosome. Ly tease Altosome. | — > Contvash’c Chorotheags Lika eye @@reolour , wing Ls Shape and bedy tolpua > fosy oO duyaontot, blo mates ound _deveodes Females are bigger tran moles - = Females Wave pointed abdloman wharces mates have.Lunt ork - = Laat boo sogmants ant darter th roales . : wi ~ 82% combs aag present to Wa Ove Umbe wales ean gh be Bary st tpg &_mivwscope- Morgan's Monohybrigt Crogs + BS Expertment - 04 t- > Normaly gruit ely ane vad aed {> Sudkclentiy a_wwite eyed mobt th ean in Hee _progeny, Red eye poral X White eyect mate Jy AU ved e46d ( both male pwote). ¥ Fp 2 AU ved eed temata S07. male red ayect Sou mole white ype « conclusion 1+ 1) Mendel s law oy demunants 6 sequaatin & _appticable. 2} trent for white eyo asia may pe present, rus ur matas- Experiment O21 ee Cer yor ey dmohnon). Red eyed yemale xX wre i a etet 25 1 pemate vot eyeat ” |_ —— = - a femate white eyoot . _ ast mote year opeat . |_ — , | 25 mote white epeK. 1 | D trene yor write eye color tan bo gaan elttey ;_—__ an _ oy the ¢exee - 1) crwene ov write eye to color present un ¥ caomosmall Dy FE & Cattecst Bea Unuect onheaceane lst ee2% nrnemosome oene present om On On nenmolvgnur thremoreme. te. no worres ponding atlte & present on 4 _ebowrn| i> Awsence oy tnveeaporetiing: autete on YW chromo sonce in an e2empton which oc. with A qens gor ortiruten trait nromoseme - All $e2-Unved tmhartrances wed eyacl pemate = White ayect Pemate XP a — L or ee Pro : " xen net xeree x ety. me Qin ae ee e __ : Red eyed 4emate * wonite aed mate. _ Ker ee Awe. eet ee Amy nex? aba) ee ca we weesloner sion 1- a Hothers gene te passed +o Sor > Fa treats Aine u passed fo no Fi > Therepore it ig called Criss Cvowe Inheni tang Morgan's Dihyiridl Cross «- Characters: Bedi (olpur Eye color Brow, yetlow Reck onite wed eyed White od brown wodied yelian body - Fre AU dominant - (red eyed Braom Lody)- Conchusion + KP squé deviatm ko tat Mandal Loo a Indspandant Assovimant- > 4 [> Thus tere was a diging enuy~ Mondiale Lay Q independent assortment net ketene plac Os Magan's progjensy weke m Huy vesormlling poste [> Thus Novgon came cut with Hae conaapt oo. inloge - IP Using Hits wncep he cooked on Baperamse Lines fo hécte 3 Why most v| the progeny oahiloited EVcait $7 wwhy did yecombinahen bole planeZo asso pound out thet tes Yecombimnk ora A ypoakag because 0 behaviour. somos omeg F ae roy OS. aa, ee adiniston - Pts wot “the conuape oy Linkage Morgan uses [aie ko ole the Gaps un Menolelig low o, [_tostependlens Agsovtment + Lnkage 4 Rewmblnation + wp eergan arated our eoverat diryloril owsses ma Dowophita to stu Genes Mok were Sex Uinwod. B jr The process wesc simitaa bo the dihyboch moss Laarrcedl out by Merdel un peas - E eq: Morgan kybrdisad yettan body white ceed —Tyemates to brown body red eyed moles cy untertresced thar Fi progeriet. . ‘ ihe ebseavedk that tne two genes dtl Sb opt ate Undopencdontuy ih each ekher 4 the Cr. vatio hon tared verr Signie ccantly Grom me Cexpectedk when the fu Geues nok 4:3 t311 yvarto ne iin daponders > 3 Mevgoun and Ws gory enews that He gomon E Tene toed on _K upmosorre and understevol if a rake when the hwo genes Gn the dinepored { et jwss nL gitar on the sare Laomoseme oy I a Tye pre pow nen 7 paxentak gene womoinakion were i yer khan Hae hon = gorantal vy pe. uted tis wo He plujsiccrr association Eg oy ur wage a, WO Gunes and pabsh—evae WINER the : to dosinibe tus physical agsonalion UAno mosemss.- a awn bug, Le wotgen ater E E E of Gongs or = sy the eam Recombination was used tw Aeseule = che qeweriation oy nen porankod qane ie urdour auei on $s m and ws sAroup also eourd that even who gang _Chapmosomes 1 vengtol Showed Some genes wear verup tighbly . Jie soEe oo Vea Lo Verorbbinaten onc some were Werle, Und Cerowed bigher vewombination.) . Egi he yound Yak We gents ” * white & yellow wore VO4 fights inked showed ondy 1-3 /. vecombcnasion volt le + Whcke wy Miniatuy wing Showedk 32°2 % Yetombinalten - PMs student Ateredl Stuy tevant used ne Rcquancy c\ Yerembination blo gent pois om Hyg game dracmasorme ab a meosne oy ditteng 4w gene» andl Mapped wk posit on We Cnsurmm osornes + Unkage 1 Ptonnection blw gents ./ physical assoiation blw 444d, ener Located on He Same chapmosome- peased on this _woncapt genes are O) hwo byperr Hunted ones 7 #F Untinued gens Pe linkesage & so, two ky pes # Complete Unlage - F Incomplte tink age . > Complete UhVO9e eshibite Progeny with oly posontal tvaits and no vecombinaleen. so ooh sean PP Mestty geen iy thiomple Uxtage . > Amount oy Unlage danidax’ Vag amount oy pene ENN SSE 7 Cossin VA i Qo and amount oy, Gwesing over - Gosictoe Ha wo- 0) Yeeomitnayits- = pp Unlage “t crossing wer bli too genes ort tnverety velatedk . Pore we a Linkage | uss & We Lrowsing ova, go yew xe~wmbinants: is * » x X Placa & He Unlage move G the Owssing over, — So move ¥ 2tombinant - 2a ey-T F . j> Base oc) oene mapping work —~Tly trenes ane Unieeorte aoranged on We I Lnnomosomes __ 3 tnossthg over WU Reo Genes ts proportionad | to distance VUO Hem. + || Recombination Frequent [SRequoruy that datearine: the no- 4ovmedk Go the _progensy, OF tho best eros? - = No - op yeumbinouth fotol no progtny x100 my _xocombinan’s Rewombt nation vowmvinadan tb wnsidersd as mop unit. bh ae Lineoe. _Oypsup st: t Ra . Re _ apres Locateck on the thiomosome 1 a tonstute ene Unkase ee \ ' a No. oy Unage apoope eoual ko haplocad a wo: oy chanmosomes - Ca: wemans 3 eqprot tO 23 Ubiaoe atone Ven =F Fyuck pug = 4 - \ Soa — detewnuhalton Mechaunt sm ¥ 7 ON ) —s vbeoaed chiortoe®met behawtour _@ustio epeamatogensris On Ungenks v ye Henkeun 4 L1841 Pree:bh Dol 4 Pr spewere strutuur aa Ce fe not veteied > Spams + E uf Therepore Xataty S wos tondluaded on ge 2 ong Ls $0 dekerminatum mechanism cs oy hwo ‘ge, H Hale Hetvogamery a Fomals Hetvo gomehy bales ans Wwkercaamot'e (XY ,XO) [> Famelis arr homogamekic CXX) | Eq: Human beings , Doraophita, arasshoppar - at Human beings « Hoke x Female . xY KX “N ay mk. “ Sis KX XRAY X BY t Af) te) Yew ~ BE. coneusstim i oom ‘ Bou Bot. f-[_¢ s 1= XX MK xO x0 4 ih) LEY Wow). _ Tel _#|R Femate tletrogoumetg s+ . AAAI Ra (i jp Femar “aeevoles “the sex oy tne cnehived i— sa Fema WA _Wetkeaoqumatie CZW) . : ‘a; — Hater art _homogameh’c (22). t— | Eg: Bivels , vephles , botteyty. t zw I (Awad Crema) i ”™ as | zz a a he EZ ZZ ZW 20” t [ay (wl (FD Lonctusion sol M SoskeeChima, 08 rr Braker ken Rob }. Sea dnteamsination tn ons, bees r Ltn hongny boss - “pon ix porided vy ne ser = - chromosome but dapencls en. Hhe plod oy Hy = oTqauim here now od ap to - dltploi dt = machaunism « > ALS \uoon ar. partranogenss's oF prrhen tog Ly Quan toe 4 wovter bees ard diplotel wheres ar tas drones art haplorct. Buceon Drone _| mate 2B 3r- ne te {peeios | mnitasis: ¥ bavy sro fae ee ete | Ponthanopenisis Nye Fuston nate. aa (mate) Ceemate) - Folygenic Tnheritans Sony gener UWntvotung one eharauer 6q: Suan colour th wumman wie *Dank skin wir -/AABBCC s Light stub cotera /L aabbec. Mendel 16 alticeis mauity Aoscribect tropa hag Hak awe abiknct eusaanatt forme uch @ Howes colour whith ane either purple 0 white - ot Here 0A many eter Waste whith ort wot oe oa a ae Q.LeY088 ce _gnackiont - Bayt: In miuens ue cont Ra os short peep os Woo distin art, oe whole wang oy possible Wows . aeChaomosome: Ho gone present _on chromosome » dno shuctuae oy ONA present i He _asrangumant a} baat powes un DNA - > Fauove whith endlrce mutation gas ner 5 HAikogens + Ly mueakion carn oe due ov + EaeeAncl goctors-T Internal Aactos afl Eacemnod sector’ + SEO G Hon A chard LS irae 4 chamicals . bt || trtemmot Aouror’ * Fappiccahion St Ln LiL bnaA me Types & «trene wuttoh'an B _ Une mosomed pittakton o_ukoubtons + ees 4 || Gone mutanion © B Lo tan we due tov + Subghnunion A w E ~Ingsakon: pL petetion » :~s Chima Ee Ba Point wuka fit + + FA nana oi nya i A PRAMOR gery Eo. Susbtitviun AVN From€ ship mutations: SA phe eects the hole sequonie, PA chownge Eg Trseartion alolote- Cracrmeorat mitotic » eShu chal yaniation * NUmertced vartedr’on Strockunod v asdaution :— VAVVVAVVANYNAA -Bopiicatien — i + Detetion- *Invoasion - + Tours Lecatcion Numeartcal vasaiatim?: ~ Euptocatey = Ovqganism lovges oY auquicves complita set Oy chaomesomes p Aneuplocdey - Adetition ov loss DY mMa_oy move thaomosome . Pedionae onalystst PA very unportent tool yor ctudyuig human onlenribedl Béeses - > ApeeA tharedacovery a tenclel'e wore Ha prashse ) anateysing chharitance pabtoan 4 at kvouke ca hwman being vegan. as ¥ Creavaxe > Since contol precegs that tan be pergovmedt_ pee plants ov some othar AGeencine s possi ch ORE oF herman Seating: 1) a hueale qoaley ba story AWOUk _ Crltri fareroik, yours An, att Me. Sua an traike in 9a = 2 Letteal Colt sis. gar often usect to detoaman wa Uereri bance 0 ic__eleseases — vecogsive ot ——_ sex _ungpecig deal —— - Agrected mole. —— —s Aeeected > Appectect sex unspecigied > Casaion mele Conner _4emale Matin TS Makhe bet” vetanves © Wwnsanginovts — motthe ) -a Types oy genre oifsorcles > two types = > Hendeuian alisordlers - + Chapmosomal olisoralers! MendatWworn -cligordhers ++ These dusordass Gat mainly oatermnsriedk by atieration ex mulation in the _tingls qane. LS theee dreordeas may be dertrant ov wecassive, auissomat ov sexturice al - b> Most common -anck privalent Hendialtan desordou aie : 2 + Hemophivn + Cystic ibrosia - (X)- Phonyt teekone yara. (2 thatassenwa - Hemophitca 1- > Sea Unuod recessive disease. b> kvansmitted prom vnayeckad carusa permale to Some 7 mate proqensy . <1 I> in sis disease a sing profen that wa pent A _casacada 01 proteins tmowod ur _xelbiHhg oh blood & sirerteat . I>Pue to this um an ayectodk individluol a simple ust will vesvolk th non- stop bleeding hence, Kumon as bleeolers drease , = Te possilttiky & yemate worming a hemophoiic 4 cstvemely rare because motura t Son A pemate has fo be atteast eaaaler He 4@ther Shoulel be hemophitte- ~The fonity pediqan o @uoon yictovia she ono. hemophilic Asseanalordis on, she. COAAben oy He ALSCRIZS ~ moe peercermarecrmrespecispeympecmspocy ease anRX yw KX ny ntl Cee) Wn) cee) @H)- % Norma _Horker -Chima. Data fie xxh xe xby x (Ord (ey ad CH) (¢FFe (a a Gg ei ft cose 4: Aceected gatur x Ae fected trother. xhy xu xh ZN i xh OY eee hve REE kth yes tar) lark) CAM) CAM) Et+-© = Rie Lae (oloug blindness t - i Sex Unked , recessive Alsovdor . Py The gene 4or wlour bundnes ob pretant oy ¥ Chromosome Pregolks in dayect Gn ecthar vedi ov garsen wne m eye [> Ie doce not mean not seeing any epi ar att neat it ads fo He yaiude tn disviiminakion lw veed e andi gXéen eee > Lt oceurs in 8'/- a mates and o, aene OAT | gemates- os N-mw- x4 Ao Savoy, ives Clee eek rrr> | quctamic Cota) oly Voléne at the 6 position “Le He Bete globin User. 97 haemo toler | male rte - yo Tp tne _desease us lontolled by single gona Wb * The cagect & caused by subslivten cs Tue Sobsi tion a amiho actd cota) con _bt kvansmitted bo parunts ty the _porawds ang waver _o tha disease. tb? Fes aore & caked on 11th chyomosome Qubin protien vesulks due (0 gingee base subshhuhion — point mukoHon al the 6 ‘to oy te 2 - globin ant ror GAG bo AU The my tant Yaemoginbin molecule ondiergoes polymevizahon undsA tous _orpophrr kengiim Loustng re Change in tne shape mn BOC yore bt uoncone dug to etongokedh gicite ike src 3 As RBLIg “become sitkle ghaped Keay bewrne puncioning oy RBC te apcored , blood temnot jlo easily andl eae Novmab tbs be = jae Aggectad - 14 b? Wbe- J 7 Cancun 7 UbA Hb? = Lanacer pathed Lornics mother le’ Hos Hb? HOS: Hb! LbR HettlbS Hb1b? Wort? N mae iS LaThatescemia 1: - [Autosomal , veeegsive ctisordlor L, Twansported’ pom posonts FO wee Sth erieg when tre pasonth are hetero {qour - > Tre ofeyect coutel ve due fo CcHALA Mrkaticn or deletion whith uttimatel, vesuths th Veducea vote oY @ynthesis ey one o the _glolun thaink Lda ®) that mate up haomoglobin - > This pemees causes tre 4ormation oy cbnovmah haomoglobin molourtes vesutinhg tro anemia Which & the charactertsiic oy tre Art case. ls Thalesamia son be clagsi¢ced according bo ) whidh chown 0] the haamogtacn moleute cy eyyecteal . > In &- Holossermia proatuction oy & - globy Chern cs Apectecl while ch P -thalessenda Producten oy 8- globin chaun ts apectadl . > of - Hralessamia t Conwolled by two Closely Libved genet HEAT % UbAR on chromosome ih of each parent % it & observed cue te mutahion ov teen of one oy more cy Hu OA gens. > The move genes fected the (eae A- globwr eo moluules Uae producoal. Pwntle ° thateesemia OG controled A5y a _ Pgs fone HBB on chromosome nt @ath pork ond ocmss dus bO mutation One ov both He 2 Hones . Thatesomia dyer fem seule colt anole. oe jormen @ oO quanttakve problum op _ Synthesizetng 415 Glob molutes who the Latter & o& qyaliialive problem 1 syntnesi2 ancl untovvestts punchimuig glebes-‘Chima; Peon Foneny wetonurio (Plea) Smutosomal vecesseye. trait. [> Inborn 2aa07 my metab a 7 oles pungdarine Wy dro lase enzyme. i— [bp Prem donee fs notmatty ponverted un to Po |_taepeeoneure tyyosune Grund acc buk dy tle q | avsen He enzyme plane acess - eateat rtp phenyl pyruvic aitial ancl | punch Torey alan cu aukiver - | accumuahin @ Huse cn born resulta [mented vetarckakion Ul tase are ates exeretanl _Hewug fn_yaurit | pecause oy poor absorption py buclrays « prenotype Ub cyjected hut ck _extipits |S As move town one ro te chock tm sungie __oent pliolropy ait ‘ate VeSults un vedtuichian cn Warr end cen 1 pigmentation: oO x an ye ee ; pt i Pree tan Veg l pryrursie accor daha ¥|[ Cavomogom at _dvsoralorg 1 SS The chromosoah Oligprdsrs UA caused clus to auogonte oy @ucess. Gov _abni ne MGS _ BARANGEMANR gone oY move chyomosomes « > Paruae oy sogregaxcor oj Cho dunn g et deetsion yesolke Go ey_uavomosomer tailed aneuprocdiy - agter telophase sbo.g* maids qetn ov tore > Foti yrotinesis (cB ‘division Yesutks th Qn Uniase dn whole eek by chaomusemes to an evganism 1 and ts pheno manen t& enewn Gs poly plocdlay -a lants: saan Ww Taig _wondition 4 eyeen 69 0 we Examples oe _chanmasomat disor 4 powns eyndowme ee uune petlkars syndnomet . te Tuvners gy odor. Down's Syndrome 1. Sao wnown as Mongpliern- han : [a Te vance ag wis qorekic dfsov &_prosenc o_o additional uwpy Unapmosome NO- 21 i¢ i mosome -Nno: be; trisomy oy 24 Such thak cheo Come, t ad: sTnig_& duo to non-disqunction ak anaphase stase oy meioscs- 1, mosteey Seen higher age mothers - (35-40 yas) [enidran worn to 3 Not expected fo run in families - bs The disorder was Pirse desirtbed by Langdon Down cn 1866 Whe @ ayeckod individual os short statuacd with gsmatt round head and bread 4orahcot -furtowed tongued and porttatly opened mouth Projecting lower. Up. +Fatrn && broad with charackorehc palm croese * flae hands with shloby gingers + Shove necte - -Puysitad physcomotor and end encar Auakopininil & Yekmadoc - + Thasased vise hook duzenses and wy do disorders - + thital shows Hongloid appaaaan ce onc fold en ayotiols aaa eee te nee eee ee rien rer .f adel oad Fyeauetteng unto o [, named ayer Hany kung geleer L1a40) - “btauced dua bo non-arsijunthion event dusung | o. CUMeHOGeMeSES - pote CARO) euch an _undividuat hos t “ar as, “[roveratt masuibine_davetopmant however paninine | —— S| doveto pment 4 also expressed’ Ldevetopment oy , breast)- Gynagvomastia . a TP veqeneracy op seminperous tublube - i ~ ||. Sparse wodey how «ved eneagy welt Oe tompored (o_ other i-— mates - {—_ Testis ane smoblea and non-punckionad _marterio i#— re _parsen sterile: by #ltorners syndrome» x sine acsidae Go caused due te absent op J ona oy the _X + Lhswomosomes wh _pomotes Ce- E 45 with xo (44 + %0)- > named ayer Honyy wand Lia3¢) > Such _gemates ore 1 » gkentle GS ovaries Ot yudim enter he wy Secondary _ gerual chomaccers ike Linden olaveloped breasts PeEEL TT TTT - Absent op ovulation monghuak ure - «Short strtune - Webbed neds . + 004 thgections + obesity. T visual umpatiment - + Smatt ginger nails . - prantok yekorgakion «2E- 04-2022 LN - 06 MoLecuLaR GASIS OF INHERITANCE 2 || Biornolece tes 2 || Nutic Oct: PEt ts 6) hwo typegi Xi) ONA - Ceory ribo nucleic axel GI RNA Rivo nucle acto + llona :- md D0 eoxy Vibo nuwleix acicl - > Doula hetteat struchere - 4 IP Fivge discovered by Friedvich Neisihra th 186% anal | named ik as “Nucltin”. | > DNA te a tong polymer oy poly ruicleo ticles - [> The Wngth ey ONA depends on He no: rutrobicles present whith & also Hie characterise the organism Bes Bacterophage 4 x174 = 5386 nucleo tahas Bacterophage A = 4$502 bp Ewli_ Batkerophage = 4b x10' be Haplotd content oy 4 = 3-3 x10% be Human ONA & || Nucta rede» PNuteckide & mole oj ree parts -- iy Pentose sugar . ti) POn go Gi) Na base Pentose sugars > Hono sacchaniatle with give carbon atoms hwo rype ss + Ribos suqoa “Demy ribose sugar.Chima: [| : ry t Ne Te De oxy rt pose 0q_QAoup! I> Inorganic salt of phos phovou > Pontose borkbone oy DNA sugar and phos phote gap roger gorm the NiWogen basis (Nz) 1 Ly Ave oy two types 1 Purine s Pyrimidtnes - Heterccyeice , Aromatic Hetero elie | aapmatic ring Lompound ying wmpound Double ring struck Single ving struchare Nine mexberwd ving with Six _membewad ring with | adsnen 5 cabon, 4 Nitrogen 4U0ab0n, 2 Nihogan. | adiun , guanine Eytoein | ruymunt, uAagil. Adorn + Ly rosin ¢ Nita Ney AL Pa Coe n guawine Thymaie + oO, oO ; ¢ w iacla : WT tz 5 mn \N2 SN o BNutleo tide = Pentose SUQaa +Na base + POa aAp- Nutteosicte = Pentose sugar +N2base- Bord g stnvolvedt_» Vi) N= guycosiole bond - Ki) Phosphoestera bona at ji) 3", 5' = Phosphoester bond Mewie_g DN Aa: j2 Disoversd by Fredalk Mischen tn 164 and named) it Gs nullein - > But duc fo tahnicad Umitation ib was not possible 'O isolate the tue ehuctere oy DNA. p> In 1453 based on lata p X ~ Yous sata provided! 4 Resalingt Pranuiun ond Nauscu Witleing @ sunple ard samove clouble helical suuctuye 0] DNA wae given by Tomer Watson and Francig Gree.Chima. Penn Sarcent Features of DNA! I> Macke o) two poly nucteoal chams with pentose gugor and phosphate gap forming Ha bartebone 4 niwogen bases aae projected cngide 3 The hwo Strands show antiparallel potoset hy bee one strand ghows _3’7 S' and) the Our shows 5! to 3’ L, The two strands ane hetd together bby hydlwogqen blonds _whear adantne binds with _tHuyméne uit kwo hydrogen bond and guanine bind with: ujtogine with thaee hydrogen bonds. (AZT, HEC): As a _yesult alway GQ! punine ts opposite to oO pyrimictsna. This _hetps marintarng tae uniporm distance un stvanols » > The pitth ey heux ts 3:4 nm ancl gach ran contains 10 bp go, digtana blW eath bp & 0-34 nm. [» Diametor % 2nm or 20 A® Is The strands arc cottedt Ge wm coulleal un a viqnt handed hetital manner - eugor_pvresphods ett bone DNA Double Neti‘ain A ||Packoging op DNA' Distang blw_eath bp = 0:34nm = 0:34 x10 Im: NO) bp cm a typical _mammatian ett : 6:6 X10 be Length ey PNA: 22m. # | Pn proormotes + Is Prcvanyates do not have a well duycned wiseleors, mentoy and D> Though they do not_have webk daycinedt meLcleod. membronr, Hur DNA ia _nok scattered - / [> Negarivaly charged DNA us coiled onound positivety chonggcl prtieng and ts hota cn the fom a} (oops - known os “Nucteoid | PAS DNA & highly coiled it & cagtly packed visile O& gmatt mites: GHal] mm Eucaryotes [>The oyganisation ~ DNA ws ywuith more wmpler by Eubaryotes P these G a Se g positively lorged basil protiens tated istone _prottens : A protien acquires tharge dapordsing pon tae Boundanie oy Gmind acid residuce with charged side _Uvarns - IS Histones aac vith Un bagit amino acicl rosidtues - lysine and aagenene 2 Bola the amino wm acicl vosidues corniy positive Chorge un troin idle chains > Histones ane ovganttoal to form a unit 8 mokkuctes caitect histone octomer - PpThere one 6 types oo) histone protions - ou sH8 oa HLA “us> 4 0) these types CMe ~My @ May Wa) ofcr | pairs to produc histone Odtomea called NU bods OY (ore | __ nuctoosome + PP DNA tonnecting the two adyacent puclrosome calted Linker ONA . Te bores U1 - > The neganvely chaaged DNA wrapped around positively charged ugtwne oulumor tv corm a Sryucture catted nuckogome Nuclosome vonshtute the Yepeating unil oy a struchere un nuelers called chromatin PP The micleosomes Un Lbwmalin ore Sear) A+ beads on string’ shuctuae when veiwed undir cluctyon mivwegcope - bbSo, when DNA gots wrappad around tus tone Ottomer ite 9120 veduecs and golg OASiley ported un Sat uecles I, the poads on shina suche ur thiomahn packaged tO yorm Uwormahn fibres thot ane yurther _cepiled and _tondensed ak rmetopnase Stage ull division to yor) chromosomes an A typiat uuleosome _Wontarins 200 bp DNA hea, $o how many bons 7 How many such beads (nucleosome) do you Unaaine ars prerent 2 G_marnrrolin U7 ar) || Te @ the equaticd NA tb 1-36 ran» Coleutae the noe bp wh © why 2OMwmnex Non- histone chromosomal Ib The packing op Unnomatin ot ligher vel | voqusres _aclelitional see OQ prokiens Hot | toueervets, ont Veered tp as non - histone | uepmosomal_proticns: Tuees oy Unvorakh + Ls Two ry pes» I Eucrvomaten > loose DNA packaging . Uckercchromatin . Tighter DNA pac bs teguttay stavned when I> Brightly stained whan | cbteawed ty mitoses pe: | obpoauecl to miroswee. > lontarns WSS DNA > contains move onA. lls Wanstuiptionaiiy ative.» transcriptional wavaue- found in suvaryores Y -> pound. h_aukax yotes- Prokornotes. | Cenval Dogma 1 ? tiven by Francs creek. P Flow 24 qunekt th sormakion. 0 vO ( oNA —_ivanseniption mm RNA lranslation iw: Protiens pier 7 En sont _viraset | these J evens? pow q inpormaiion*Chima Searth por gentkic matewat + : genartc In 1426 seaath por mechanim por molaentoa thheattanw veathed He molto lWwvet- Grigeith'e expoament | Transeormua principles > In 'A28 | ariith perrormed expariments on SteplOlorus proumonca, A bacterta tak cases pngumona on he hogt - Sere